The Following User Says Thank You to LaDiDah For This Useful Post:

Hi, I'm sorry I can't help but just wanted to say how sorry I am you are going through this. It sounds extremely traumatic. Your bubs issues should definitely have been picked up. I remember my sonographer checking the bones and their length. Even the finger bones when she could see them and checking for a cleft palate. How could this have been missed?? I'd definitely be talking to the hospital and a lawyer I think.

The Following User Says Thank You to Bongley For This Useful Post:

It is completely normal what you are feeling and I would be angry and disappointed to say the least.

The o/b and sonographer in particular should have pick the missing bone in 19week U/S. Also the o/b should have advised you that based on the history you could do a NIPT blood test which would pick up the chromosomal abnormalities at 10 weeks.

The Following User Says Thank You to ILKANDMT For This Useful Post:

I haven't read all the replies, I am so sorry you're going through this OP. I would also be very upset and I have no advice in that regard.

With the scan question, without doubt much of this should have and would have been picked up by a credible professional sonographer. I went to a highly reputable private ob and whilst she does do interim scans in her office (as most do), all important scans are outsourced to specialist imaging centres with excellent equipment and professionals that specialise in detailed sonography. Not only did we see clear fingers and toes, but heart chambers and kidney function among other things, all explained as she showed us on screen. Scanning equipment is highly advanced now and I do believe what has happened to you is unacceptable. Whilst finding out at your 20 week morphology scan wouldn't change anything, you could have at least been prepared rather than finding out at birth.

The Following 2 Users Say Thank You to sunnygirl79 For This Useful Post:

With my DS who has a rare genetic disorder, Mecp2 duplication syndrome who when pregnant with him I had lot's of scans and each time everything looked perfectly fine. Even after he was born everything seemed fine for about the first 6 months until he was falling behind with skills and still evidently acting like a newborn.

Apparently with Mecp2 though it's hard to diagnose and everything usually looks normal for roughly the first 6 months of life.

I'm not sure that is the case with you and your DS though. I'm not sure how I would be feeling, I believe these things can happen and can be hard to pick up with pregnancy and scans if it were me I'd let it go and concentrate on what you face with your boy now, I know that can be hard believe me, I sometimes feel bitter and annoyed nothing was picked up but getting your child through the important things now seems the place to put your energy. I do really feel for you though as I am also living and breathing it daily.

As someone else said too unless there is a reason or history with a genetic disposition then testing for anything doesn't necessarily need to be carried out.

I'm very sorry this has happened to you, and come as a shock when bubs was born. I hope you can get some information and closure about how it was missed.

Regarding comments on genetic testing:

The NIPT only tests for common missing/extra chromosomes on 13,18,21 and sex chromosomes. To do full testing a CVS or amniocentesis is needed.

I did PGS on my ivf embryos. It tests for big errors in chromosome number like trisomies etc. It wouldn't pick up a specific problem like this.

If you did want to test for the same abnormality later they could do a specific genetic test on the embryos but it wouldn't be done as a screening test without a past or family history of a particular disorder. To do genetic testing on embryos you have to have done ICSI.

The Following User Says Thank You to Flower78 For This Useful Post:

On the genetic testing I did the Panorama NIPT about 6 weeks ago and it also tested for the 5 most common microdeletion syndromes including Di George. The basic Panorama test and Harmony NIPT do not test for these.

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